메뉴 건너뛰기




Volumn 19, Issue 5, 2011, Pages 561-566

HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia

Author keywords

CAG expansion; CAG instability; Cis elements; Haplotypes; Huntington disease; Prevalence

Indexed keywords

CIS ACTING ELEMENT; HUNTINGTIN;

EID: 79955758366     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.229     Document Type: Article
Times cited : (134)

References (47)
  • 1
    • 33846225133 scopus 로고    scopus 로고
    • Huntington's disease
    • DOI 10.1016/S0140-6736(07)60111-1, PII S0140673607601111
    • Walker FO: Huntington's disease. Lancet 2007; 369: 218-228. (Pubitemid 46107685)
    • (2007) Lancet , vol.369 , Issue.9557 , pp. 218-228
    • Walker, F.O.1
  • 2
    • 0035732934 scopus 로고    scopus 로고
    • The frequency of inherited disorders database: Prevalence of huntington disease
    • DOI 10.1159/000051175
    • Al-Jader LN, Harper PS, Krawczak M, Palmer SR: The frequency of inherited disorders database: Prevalence of Huntington disease. Community Genet 2001; 4: 148-157. (Pubitemid 34293648)
    • (2001) Community Genetics , vol.4 , Issue.3 , pp. 148-157
    • Al-Jader, L.N.1    Harper, P.S.2    Krawczak, M.3    Palmer, S.R.4
  • 3
    • 0028785593 scopus 로고
    • Origins and evolution of Huntington disease chromosomes
    • Andrew SE, Hayden MR: Origins and evolution of Huntington disease chromosomes. Neurodegeneration 1995; 4: 239-244.
    • (1995) Neurodegeneration , vol.4 , pp. 239-244
    • Andrew, S.E.1    Hayden, M.R.2
  • 4
    • 0026684333 scopus 로고
    • The epidemiology of Huntington's disease
    • Harper PS: The epidemiology of Huntington's disease. Hum Genet 1992; 89: 365-376.
    • (1992) Hum Genet , vol.89 , pp. 365-376
    • Harper, P.S.1
  • 5
    • 0028564730 scopus 로고
    • DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence
    • Squitieri F, Andrew SE, Goldberg YP et al: DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum Mol Genet 1994; 3: 2103-2114.
    • (1994) Hum Mol Genet , vol.3 , pp. 2103-2114
    • Squitieri, F.1    Andrew, S.E.2    Goldberg, Y.P.3
  • 8
    • 0028715918 scopus 로고
    • Huntington's disease in Hong Kong Chinese: Epidemiology and clinical picture
    • Chang CM, Yu YL, Fong KY et al: Huntington's disease in Hong Kong Chinese: Epidemiology and clinical picture. Clin Exp Neurol 1994; 31: 43-51.
    • (1994) Clin Exp Neurol , vol.31 , pp. 43-51
    • Chang, C.M.1    Yu, Y.L.2    Fong, K.Y.3
  • 10
    • 0029027047 scopus 로고
    • Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease
    • Masuda N, Goto J, Murayama N, Watanabe M, Kondo I, Kanazawa I: Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease. J Med Genet 1995; 32: 701-705.
    • (1995) J Med Genet , vol.32 , pp. 701-705
    • Masuda, N.1    Goto, J.2    Murayama, N.3    Watanabe, M.4    Kondo, I.5    Kanazawa, I.6
  • 11
    • 0033110870 scopus 로고    scopus 로고
    • Population genetic study of Huntington's disease-prevalence and founder's effect in the San-in area, western Japan
    • Adachi Y, Nakashima K: Population genetic study of Huntington's disease-prevalence and founder's effect in the San-in area, western Japan. Nippon Rinsho 1999; 57: 900-904.
    • (1999) Nippon Rinsho , vol.57 , pp. 900-904
    • Adachi, Y.1    Nakashima, K.2
  • 12
    • 12244304090 scopus 로고
    • Huntington's Chorea in Japan: Review of the literature
    • Narabayashi H: Huntington's Chorea in Japan: Review of the literature. Adv Neurol 1973; 1: 253-259.
    • (1973) Adv Neurol , vol.1 , pp. 253-259
    • Narabayashi, H.1
  • 14
    • 0028882509 scopus 로고
    • Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
    • Goldberg YP, McMurray CT, Zeisler J et al: Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 1995; 4: 1911-1918.
    • (1995) Hum Mol Genet , vol.4 , pp. 1911-1918
    • Goldberg, Y.P.1    McMurray, C.T.2    Zeisler, J.3
  • 15
    • 33748321965 scopus 로고    scopus 로고
    • Predictive testing for Huntington disease: Interpretation and significance of intermediate alleles
    • DOI 10.1111/j.1399-0004.2006.00668.x
    • Semaka A, Creighton S, Warby S, Hayden MR: Predictive testing for Huntington disease: Interpretation and significance of intermediate alleles. Clin Genet 2006; 70: 283-294. (Pubitemid 44323391)
    • (2006) Clinical Genetics , vol.70 , Issue.4 , pp. 283-294
    • Semaka, A.1    Creighton, S.2    Warby, S.3    Hayden, M.A.4
  • 16
    • 0035128291 scopus 로고    scopus 로고
    • Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases
    • DOI 10.1086/318193
    • Falush D, Almqvist EW, Brinkmann RR, Iwasa Y, Hayden MR: Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am J Hum Genet 2001; 68: 373-385. (Pubitemid 32147807)
    • (2001) American Journal of Human Genetics , vol.68 , Issue.2 , pp. 373-385
    • Falush, D.1    Almqvist, E.W.2    Brinkmann, R.R.3    Iwasa, Y.4    Hayden, M.R.5
  • 17
    • 0034780024 scopus 로고    scopus 로고
    • High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia
    • DOI 10.1034/j.1399-0004.2001.600305.x
    • Almqvist EW, Elterman DS, MacLeod PM, Hayden MR: High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin Genet 2001; 60: 198-205. (Pubitemid 32982816)
    • (2001) Clinical Genetics , vol.60 , Issue.3 , pp. 198-205
    • Almqvist, E.W.1    Elterman, D.S.2    MacLeod, P.M.3    Hayden, M.R.4
  • 18
    • 77349122826 scopus 로고    scopus 로고
    • CAG-repeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches
    • Langbehn DR, Hayden MR, Paulsen JS: CAG-repeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches. Am J Med Genet B Neuropsychiatr Genet 2010; 153B: 397-408.
    • (2010) Am J Med Genet B Neuropsychiatr Genet , vol.153 B , pp. 397-408
    • Langbehn, D.R.1    Hayden, M.R.2    Paulsen, J.S.3
  • 19
    • 1842477303 scopus 로고    scopus 로고
    • A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
    • DOI 10.1111/j.1399-0004.2004.00241.x
    • Langbehn DR, Brinkman RR, Falush D, Paulsen JS, Hayden MR: A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet 2004; 65: 267-277. (Pubitemid 38443548)
    • (2004) Clinical Genetics , vol.65 , Issue.4 , pp. 267-277
    • Langbehn, D.R.1    Brinkman, R.R.2    Falush, D.3    Paulsen, J.S.4    Hayden, M.R.5
  • 21
    • 61549104503 scopus 로고    scopus 로고
    • CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup
    • Warby SC, Montpetit A, Hayden AR et al: CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet 2009; 84: 351-366.
    • (2009) Am J Hum Genet , vol.84 , pp. 351-366
    • Warby, S.C.1    Montpetit, A.2    Hayden, A.R.3
  • 23
    • 12244266688 scopus 로고
    • Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: Insights into the genetic evolution of Huntington disease
    • Almqvist E, Spence N, Nichol K et al: Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: Insights into the genetic evolution of Huntington disease. Hum Mol Genet 1995; 4: 207-214.
    • (1995) Hum Mol Genet , vol.4 , pp. 207-214
    • Almqvist, E.1    Spence, N.2    Nichol, K.3
  • 24
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • DOI 10.1086/319501
    • Stephens M, Smith NJ, Donnelly P: A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68: 978-989. (Pubitemid 32289743)
    • (2001) American Journal of Human Genetics , vol.68 , Issue.4 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 25
    • 0842327450 scopus 로고    scopus 로고
    • Technical Standards and Guidelines for Huntington Disease Testing
    • DOI 10.1097/01.GIM.0000106165.74751.15
    • Potter NT, Spector EB, Prior TW: Technical standards and guidelines for Huntington disease testing. Genet Med 2004; 6: 61-65. (Pubitemid 38175981)
    • (2004) Genetics in Medicine , vol.6 , Issue.1 , pp. 61-65
    • Potter, N.T.1    Spector, E.B.2    Prior, T.W.3
  • 26
    • 0029338966 scopus 로고
    • A study on Huntington's disease associated trinucleotide repeat within the Chinese population
    • Soong BW, Wang JT: A study on Huntington's disease associated trinucleotide repeat within the Chinese population. Proc Natl Sci Counc Repub China B 1995; 19: 137-142.
    • (1995) Proc Natl Sci Counc Repub China B , vol.19 , pp. 137-142
    • Soong, B.W.1    Wang, J.T.2
  • 27
    • 71149111233 scopus 로고    scopus 로고
    • Haplotype background, repeat length evolution, and Huntington's disease
    • Falush D: Haplotype background, repeat length evolution, and Huntington's disease. Am J Hum Genet 2009; 85: 939-942.
    • (2009) Am J Hum Genet , vol.85 , pp. 939-942
    • Falush, D.1
  • 28
    • 0029075558 scopus 로고
    • Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes
    • Kremer B, Almqvist E, Theilmann J et al: Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet 1995; 57: 343-350.
    • (1995) Am J Hum Genet , vol.57 , pp. 343-350
    • Kremer, B.1    Almqvist, E.2    Theilmann, J.3
  • 29
    • 25844438495 scopus 로고    scopus 로고
    • Repeat instability: Mechanisms of dynamic mutations
    • DOI 10.1038/nrg1689
    • Pearson CE, Edamura KN, Cleary JD: Repeat instability: Mechanisms of dynamic mutations. Nat Rev Genet 2005; 6: 729-742. (Pubitemid 41400831)
    • (2005) Nature Reviews Genetics , vol.6 , Issue.10 , pp. 729-742
    • Pearson, C.E.1    Edamura, K.N.2    Cleary, J.D.3
  • 30
    • 34347242503 scopus 로고    scopus 로고
    • CAG-encoded polyglutamine length polymorphism in the human genome
    • Butland SL, Devon RS, Huang Y et al: CAG-encoded polyglutamine length polymorphism in the human genome. BMC Genomics 2007; 8: 126.
    • (2007) BMC Genomics , vol.8 , pp. 126
    • Butland, S.L.1    Devon, R.S.2    Huang, Y.3
  • 32
    • 57149089871 scopus 로고    scopus 로고
    • CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: A novel basis for mutational hot spot determination
    • Libby RT, Hagerman KA, Pineda VV et al: CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: A novel basis for mutational hot spot determination. PLoS Genet 2008; 4: E1000257.
    • (2008) PLoS Genet , vol.4
    • Libby, R.T.1    Hagerman, K.A.2    Pineda, V.V.3
  • 33
    • 73449149044 scopus 로고    scopus 로고
    • Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data
    • Gutenkunst RN, Hernandez RD, Williamson SH, Bustamante CD: Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genetics 2009; 5: E1000695-e1000695.
    • (2009) PLoS Genetics , vol.5
    • Gutenkunst, R.N.1    Hernandez, R.D.2    Williamson, S.H.3    Bustamante, C.D.4
  • 35
    • 0023256007 scopus 로고
    • Low prevalence of Huntington's disease in Finland
    • Palo J, Somer H, Ikonen E, Karila L, Peltonen L: Low prevalence of Huntington's disease in Finland. Lancet 1987; 2: 805-806. (Pubitemid 17133158)
    • (1987) Lancet , vol.2 , Issue.8562 , pp. 805-806
    • Palo, J.1    Somer, H.2    Ikonen, E.3
  • 37
    • 0022568884 scopus 로고
    • Huntington's chorea in Norway
    • Saugstad L, Odegård O: Huntington's chorea in Norway. Psychol Med 1986; 16: 39-48. (Pubitemid 16130404)
    • (1986) Psychological Medicine , vol.16 , Issue.1 , pp. 39-48
    • Saugstad, L.1    Odegard, O.2
  • 38
    • 38949205940 scopus 로고    scopus 로고
    • Huntington disease mutation in Venezuela: Age of onset, haplotype analyses and geographic aggregation
    • Paradisi I, Hernández A, Arias S: Huntington disease mutation in Venezuela: Age of onset, haplotype analyses and geographic aggregation. J Hum Genet 2008; 53: 127-135.
    • (2008) J Hum Genet , vol.53 , pp. 127-135
    • Paradisi, I.1    Hernández, A.2    Arias, S.3
  • 39
    • 0008800552 scopus 로고
    • Medical and social aspects of Huntington's chorea in the state of Zulia, Venezuela
    • Avila-Giron R: Medical and social aspects of Huntington's chorea in the state of Zulia, Venezuela. Adv Neurol 1973; 1: 261-266.
    • (1973) Adv Neurol , vol.1 , pp. 261-266
    • Avila-Giron, R.1
  • 40
    • 0025001261 scopus 로고
    • Prevalence of Huntington's disease among UK immigrants from the Indian subcontinent
    • Shiwach RS, Lindenbaum RH: Prevalence of Huntington's disease among UK immigrants from the Indian subcontinent. Br J Psychiatry: J Mental Sci 1990; 157: 598-599. (Pubitemid 20335974)
    • (1990) British Journal of Psychiatry , vol.157 , Issue.OCT. , pp. 598-599
    • Shiwach, R.S.1    Lindenbaum, R.H.2
  • 42
    • 0017584583 scopus 로고
    • Huntington's chorea in the Cape Coloured community of South Africa
    • Hayden MR, Beighton P: Huntington's chorea in the Cape coloured community of South Africa. S Afr Med J 1977; 52: 886-888. (Pubitemid 8272176)
    • (1977) South African Medical Journal , vol.52 , Issue.22 , pp. 886-888
    • Hayden, M.R.1    Beighton, P.2
  • 44
    • 34247637274 scopus 로고    scopus 로고
    • A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations
    • DOI 10.1038/sj.ejhg.5201796, PII 5201796
    • Scholefield J, Greenberg J: A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations. Eur J Hum Genet 2007; 15: 590-595. (Pubitemid 46681465)
    • (2007) European Journal of Human Genetics , vol.15 , Issue.5 , pp. 590-595
    • Scholefield, J.1    Greenberg, J.2
  • 47
    • 0021260868 scopus 로고
    • Huntington disease: Genetics and epidemiology
    • Conneally PM: Huntington disease: Genetics and epidemiology. Am J Hum Genet 1984; 36: 506-526. (Pubitemid 14121883)
    • (1984) American Journal of Human Genetics , vol.36 , Issue.3 , pp. 506-526
    • Conneally, P.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.